IthaID: 311



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --FIL HGVS Name: NC_000016.10:g.151641_182316del
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 12504
Size: 30.675 kb
Deletion involves: ζ, α2, α1

Other details

Type of Mutation: Deletion
Ethnic Origin: Philippinos
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Frequencies

Publications / Origin

  1. Fischel-Ghodsian N, Vickers MA, Seip M, Winichagoon P, Higgs DR, Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL)., British journal of haematology, 70(2), 233-8, 1988 PubMed
  2. Eng B, Patterson M, Borys S, Chui DH, Waye JS, PCR-based diagnosis of the Filipino (--(FIL)) and Thai (--(THAI)) alpha-thalassemia-1 deletions., Am. J. Hematol. , 63(1), 54-6, 2000 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2020-07-07 16:07:54 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.